ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
Health and economic outcomes of newborn screening for infantile-onset Pompe disease.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 3 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 3 syntheses or guidelines pooled it, 23 citations in OpenAlex.
- Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022.Orphanet journal of rare diseases · 2026Pooled it
- Benefits and harms of antenatal and newborn screening programmes in health economic assessments: the VALENTIA systematic review and qualitative investigation.Health technology assessment (Winchester, England) · 2024Pooled it
- A Systematic Review of Methods Used by Pediatric Cost-Utility Analyses to Include Family Spillover Effects.PharmacoEconomics · 2024Pooled it
- Towards a Multi-sectoral Approach to Population Health: A Scoping Review of Cross-sectoral Evaluations of Health Interventions.Applied health economics and health policy · 2026Review
- A retrospective cohort study describing the disease burden in patients with Pompe disease treated with enzyme replacement therapy in the United States.Journal of neuromuscular diseases · 2026Article
- Cost-Effectiveness of Newborn Screening for Infantile-Onset Pompe Disease in Japan.International journal of neonatal screening · 2026Article
- Prospective Monitoring of Lyso-Gb1 on DBS Sample in Three Children Recognized at Newborn Screening for Gaucher Disease and Untreated.Children (Basel, Switzerland) · 2025Article
- Latest Advancements in Treatment Options for Infantile-Onset Pompe Disease: A Comprehensive Narrative Review.Clinical medicine insights. Pediatrics · 2025Review
- An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records.Scientific reports · 2024Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Can knowledgeable experts assess costs and outcomes as if they were ignorant? An experiment within precision medicine evaluation.International journal of technology assessment in health care · 2023Article
- A Mouse Systems Genetics Approach Reveals Common and Uncommon Genetic Modifiers of Hepatic Lysosomal Enzyme Activities and Glycosphingolipids.International journal of molecular sciences · 2023Article
- Article
- An artificial intelligence-based approach for identifying rare disease patients using retrospective electronic health records applied for Pompe disease.Frontiers in neurology · 2023Article
- Article
- Individualized Assessment of Exercise Capacity in Response to Acute and Long-Term Enzyme Replacement Therapy in Pediatric Pompe Disease.Journal of personalized medicine · 2021Article
- Monetary Valuation of Children's Cognitive Outcomes in Economic Evaluations from a Societal Perspective: A Review.Children (Basel, Switzerland) · 2021Review
- Challenges in Assessing the Cost-Effectiveness of Newborn Screening: The Example of Congenital Adrenal Hyperplasia.International journal of neonatal screening · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 5 institutions in 1 country.
Funding
Abstract
purposeTo estimate health and economic outcomes associated with newborn screening (NBS) for infantile-onset Pompe disease in the United States.
methodsA decision analytic microsimulation model simulated health and economic outcomes of a birth cohort of 4 million children in the United States. Universal NBS and treatment was compared with clinical identification and treatment of infantile-onset Pompe disease. Main outcomes were projected cases identified, costs, quality-adjusted life-years (QALYs), and incremental cost-effectiveness ratios (ICERs) over the life course.
resultsUniversal NBS for Pompe disease and confirmatory testing was estimated to cost an additional $26 million annually. Additional medication costs associated with earlier treatment initiation were $181 million; however, $8 million in medical care costs for other services were averted due to delayed disease progression. Infants with screened and treated infantile-onset Pompe disease experienced an average lifetime increase of 11.66 QALYs compared with clinical detection. The ICER was $379,000/QALY from a societal perspective and $408,000/QALY from the health-care perspective. Results were sensitive to the cost of enzyme replacement therapy.
conclusionNewborn screening for Pompe disease results in substantial health gains for individuals with infantile-onset Pompe disease, but with additional costs.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.